Found 7392 SAVs (36.7 %)from pleiotropic protein and 12743 SAVs (63.3 %) from non-pleiotropic protein.
15222 disease SAVs (75.6 %) and 4913 non-disease (24.4 %).
20135 items found (page 196 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P78504 | pleiotropic | VAR_026303 | p.Val45Leu | Non-Disease | rs183974372 | 0.0028 | - |
P78504 | pleiotropic | VAR_026301 | p.Ile39Ser | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_026309 | p.Cys92Tyr | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_026307 | p.Cys78Ser | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_013203 | p.Gly386Arg | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_026322 | p.Cys271Arg | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_013194 | p.Arg184His | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_013201 | p.Cys284Phe | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_026308 | p.Cys92Arg | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_013191 | p.Pro163Leu | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_013207 | p.Cys753Arg | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_048985 | p.Val146Ile | Non-Disease | rs6040067 | 0.0138 | - |
P78504 | pleiotropic | VAR_013189 | p.Pro129Arg | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_026311 | p.Pro123Ser | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_013199 | p.Cys229Tyr | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_026312 | p.Ala155Pro | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_026325 | p.Cys693Tyr | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_013205 | p.Cys731Ser | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_026329 | p.Arg889Gln | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_026335 | p.Arg937Gln | Disease | rs145895196 | 0.0022 | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_013197 | p.Cys220Phe | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_013190 | p.Ile152Thr | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_013187 | p.Leu79His | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_026320 | p.Gly256Ser | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_026332 | p.Cys911Tyr | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_026333 | p.Ser913Arg | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_013202 | p.Trp288Cys | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_026328 | p.Pro871Arg | Non-Disease | rs35761929 | 0.0427 | - |
P78504 | pleiotropic | VAR_026300 | p.Gly33Val | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_026306 | p.Phe75Ser | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_013206 | p.Cys740Arg | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_013186 | p.Leu37Ser | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_026299 | p.Gly33Ser | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_013188 | p.Ala127Thr | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_026323 | p.Asn504Ser | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_026327 | p.Arg818Lys | Non-Disease | - | - | - |
P78504 | pleiotropic | VAR_026319 | p.Arg252Gly | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_013193 | p.Arg184Gly | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_013204 | p.Cys438Phe | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_026326 | p.Cys714Tyr | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_026297 | p.Ala31Val | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_026302 | p.Leu40Pro | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_013192 | p.Arg184Cys | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_013196 | p.Cys187Ser | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_026298 | p.Gly33Asp | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_013195 | p.Arg184Leu | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_026310 | p.Ile120Asn | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_026314 | p.Tyr181Asn | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_026330 | p.Cys902Ser | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |
P78504 | pleiotropic | VAR_026317 | p.Trp224Cys | Disease | - | - | Alagille syndrome 1 (ALGS1) [MIM:118450] |